Neural Tube Defects, Folic Acid and Methylation

by Henk J. Blom, Apolline Imbard, Jean-François Benoist
Published 2013-09-01

First case of hereditary xanthinuria in a Moroccan family

by Aicha Ezoubeiri, Asma Labaali, Naima Fdil, Jean-François Benoist, Laila Chabaa
Published 2019-12-01

Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice.

by Manuel Schiff, Paule Bénit, Riyad El-Khoury, Dimitri Schlemmer, Jean-François Benoist, Pierre Rustin
Published 2011-01-01

ShiF acts as an auxiliary factor of aerobactin secretion in meningitis Escherichia coli strain S88

by Mathieu Genuini, Philippe Bidet, Jean-François Benoist, Dimitri Schlemmer, Chloé Lemaitre, André Birgy, Stéphane Bonacorsi
Published 2019-12-01

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

by Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff
Published 2019-10-01

Pathology influences blood pressure change following vagal stimulation in an animal intubation model.

by Peter Jones, Laurent Guillaud, Christophe Desbois, Jean-Francois Benoist, Helene Combrisson, Stephane Dauger, Mark J Peters
Published 2013-01-01

Non-ketogenic combination of nutritional strategies provides robust protection against seizures

by Glenn Dallérac, Julien Moulard, Jean-François Benoist, Stefan Rouach, Stéphane Auvin, Angèle Guilbot, Loïc Lenoir, Nathalie Rouach
Published 2017-07-01

Correction: Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

by Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boepsflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme
Published 2011-01-01

Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

by Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boespflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme
Published 2011-01-01

Correction: Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

by Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boepsflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme
Published 2011-01-01

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

by Konstantina Fragaki, Annabelle Chaussenot, Jean-François Benoist, Samira Ait-El-Mkadem, Sylvie Bannwarth, Cécile Rouzier, Charlotte Cochaud, Véronique Paquis-Flucklinger

Translocator Protein-Mediated Stabilization of Mitochondrial Architecture during Inflammation Stress in Colonic Cells.

by Leeyah Issop, Mariano A Ostuni, Sunghoon Lee, Mireille Laforge, Gabriel Péranzi, Pierre Rustin, Jean-François Benoist, Jérome Estaquier, Vassilios Papadopoulos, Jean-Jacques Lacapère
Published 2016-01-01

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

by Carole Harbulot, Stéphanie Paquay, Imen Dorboz, Samia Pichard, Agnès Bourillon, Jean-François Benoist, Claude Jardel, Hélène Ogier de Baulny, Odile Boespflug-Tanguy, Manuel Schiff
Published 2016-06-01

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

by Lenaig Abily-Donval, Stéphanie Torre, Aurélie Samson, Bénédicte Sudrié-Arnaud, Cécile Acquaviva, Anne-Marie Guerrot, Jean-François Benoist, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Published 2017-11-01

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation

by Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Julie Sommet, Samia Pichard, Laurent Holvoet, Albert Faye, Malika Benkerrou, Jean-François Benoist, Manuel Schiff
Published 2020-06-01

Angelman syndrome and isovaleric acidemia: What is the link?

by Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff
Published 2015-06-01

Long-term renal outcome in methylmalonic acidemia in adolescents and adults

by Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay, Aude Servais
Published 2021-05-01

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

by Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean‐Francois Benoist, Bruce A. Barshop, Jaime J. Barea, Annette Feigenbaum
Published 2020-03-01

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

by Sarah Mafi, Cécile Laroche-Raynaud, Pauline Chazelas, Anne-Sophie Lia, Paco Derouault, Franck Sturtz, Yasser Baaj, Rachel Froget, Marlène Rio, Jean-François Benoist, François Poumeaud, Frédéric Favreau, Pierre-Antoine Faye
Published 2020-10-01

Melatonin Levels in Preterm and Term Infants and Their Mothers

by Valérie Biran, Fabrice Decobert, Nathalie Bednarek, Priscilla Boizeau, Jean-François Benoist, Bruno Claustrat, Jérôme Barré, Marina Colella, Alice Frérot, Roselyne Garnotel, Olivier Graesslin, Bassam Haddad, Jean-Marie Launay, Thomas Schmitz, Julien Schroedt, Anne-Laure Virlouvet, Sophie Guilmin-Crépon, Adyla Yacoubi, Evelyne Jacqz-Aigrain, Pierre Gressens, Corinne Alberti, Olivier Baud
Published 2019-04-01